| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.95 | NDUFA13 | Bryony Thompson Marked gene: NDUFA13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.95 | NDUFA13 | Bryony Thompson Gene: ndufa13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.95 | NDUFA13 | Bryony Thompson Classified gene: NDUFA13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.95 | NDUFA13 | Bryony Thompson Gene: ndufa13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.94 | NDUFA13 |
Bryony Thompson gene: NDUFA13 was added gene: NDUFA13 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: NDUFA13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA13 were set to 39963288 Disease associations for gene: NDUFA13 were set to mitochondrial complex I deficiency, nuclear type 28, MONDO:0032632 Review for gene: NDUFA13 was set to GREEN Added comment: PMID 39963288 reports 13 individuals from 11 families with biallelic NDUFA13 variants presenting with infantile‑onset neurodevelopmental disorder characterised by spasticity/hypertonia, global developmental delay, optic atrophy, cerebellar ataxia, movement disorders and epilepsy. Fibroblast studies show reduced complex I activity. Sources: Literature |
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